Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Neoplasm of striated muscle (HP:0009728)

Grandparent Node:
Soft tissue sarcoma (HP:0030448)

Parent Node:
Embryonal neoplasm (HP:0002898)

Parent Node:
Rhabdomyosarcoma (HP:0002859)

..Starting node
..Embryonal rhabdomyosarcoma (HP:0006743)

Term ID:

6743

Name:

Embryonal rhabdomyosarcoma

Synonym:

Definition:

Comments:

Reference:

HP:0006743

Genes and Diseases:

Child Nodes:

Sister Nodes:

Alveolar rhabdomyosarcoma (HP:0006779)

Orbital rhabdomyosarcoma (HP:0500092)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006743	HP:0006743	Embryonal rhabdomyosarcoma	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0006743	HP:0006743	Embryonal rhabdomyosarcoma	0	DICER1 CL E G H	23405	17098	OMIM:180295	RHABDOMYOSARCOMA, EMBRYONAL, 2; RMSE2		670
HP:0006743	HP:0006743	Embryonal rhabdomyosarcoma	0	SLC22A18 CL E G H	5002	10964	OMIM:268210	Rhabdomyosarcoma 1	.	3

Genes (3) :BUB1B DICER1 SLC22A18

Diseases (3) :OMIM:257300 OMIM:180295 OMIM:268210

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.